ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3120T>A (p.Thr1040=)

gnomAD frequency: 0.00205  dbSNP: rs147176678
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000559088 SCV000535841 likely benign not provided 2019-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087730 SCV000649164 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-12-23 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000438818 SCV000708300 likely benign not specified 2017-05-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000559088 SCV001145966 benign not provided 2019-03-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000559088 SCV005227950 likely benign not provided criteria provided, single submitter not provided

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